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Hindawi Publishing CorporationCase Reports in DentistryVolume 2012, Article ID 483867,4pagesdoi:10.1155/2012/483867

Case ReportRubinstein-Taybi Syndrome: A Case Report

A. P. Munevveroglu and B. B. Akgol

Department of Pedodontics, Faculty of Dentistry, Istanbul Medipol University, Fatih, 34093 Istanbul, Turkey

Correspondence should be addressed to A. P. Munevveroglu,apatir@medipol.edu.tr

Received 12 July 2012; Accepted 8 August 2012

Academic Editors: A. Epivatianos and A. L. S. Guimaraes

Copyright 2012 A. P. Munevveroglu and B. B. Akgol. This is an open access article distributed under the Creative CommonsAttribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work isproperly cited.

Rubinstein-Taybi syndrome or Broad Thumb-Hallux syndrome is a genetic disorder characterized by facial dysmorphism, growthretardation, and mental deficiency. A seven-year-old girl had come to the Department of Pedodontics, Istanbul Medipol University,Faculty of Dentistry, Turkey, with a complaint of caries and bleeding of gingivae. The patient was mentally retarded. Extraoralfeatures revealed distinctive facial appearance with a broad fore head, hypertelorism, broadnasal bridge, andbeaked nose. Intraoralfeatures observed were talons cusps in the upper lateral incisors, carious teeth, and plaque accumulation. Since the patient wasmentally retarded, the dental treatment was done under GA. The treatment plan and dental management of this patient arediscussed in this case report.

1. Introduction

Rubinstein-Taybi Syndrome (RTS:OMIM 180849), or BroadThumb-Hallux syndrome, was initially described by Michailet al. in 1957 [1]. In 1963, Rubenstein and Taybi reported onseven cases of this syndrome [2], which included a group ofcongenital anomalies consisting of short, broad thumbs andgreat toes, psychomotor retardation, highly arched palates,and histories of recurrent respiratory infections and par-ticular facial abnormalities [35]. It is caused by either amicrodeletion at 16p13.3 or mutations in the CREB-bindingprotein (CREBBP or CBP) or EP300 gene (at 22q13) [47].

The incidence of the syndrome has been estimated to be1 in every 300,000 newborns [7]. There is an equal male andfemale incidence [810].

The main distinctive features most commonly linkedto this syndrome are downward sloping palpebral fissures,broad thumbs and halluces, growth retardation and psy-chomotor developmental delay, typical facial dysmorphism,hypertelorism, a prominent forehead, and mental disability[911].

One intriguing phenomenon is the fact that RTS patientsare prone to develop tumours. These tumours show apattern of neural and developmental origin, and neuroblas-toma, medullablastoma, oligodendroglioma, meningioma,

seminoma, odontoma, choristoma, and polimatrixtomaswere the reported tumours in RTS patients [3,12,13].

Congenital anomalies of cardiovascular system are alsodescribed such as ventricular septal defect, patent ductusarteriosus, coarctation and stenosis of the aorta, and pul-monic stenosis [3,14,15].

Oral manifestations of this syndrome include limitedmouth opening, a pouting lower lip, retro/micrognathia, ahigh arched and narrow palate, cleft uvula and palate, andrarely a cleft upper lip. Dental abnormalities occur in67% of individuals with RTS and can include hypodontia,maintenance of deciduous teeth, talon cusps, and enamel

hypoplasia. An increased rate of caries and periodontaldisease has been reported in these patients. However peri-odontal disease has not always been associated with thissyndrome [7,11,16]. Characteristics of RTS are described inTable 1.

Dental treatment is generally complicated due to diffi-culties in managing the patients behavior. In most patientswith this syndrome, it is necessary to carry out the dentaltreatment under sedation or general anesthesia. It is impor-tant to know that these patients might have upper respiratoryobstruction during sleeping or sedation because of theanatomical characteristics of their maxillofacial region [1618].

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Table1: Characteristics of RTS.

Orthopedic Broad thumbs, first toes, short stature, vertebral abnormalities

Eye Strabismus, refractory errors, ptosis, coloboma, ptosis, cataracts, nystagmus

Cardiac Congenital heart defects

Dental Crowding teeth, malocclusion, multiple caries, hypodontia, hyperdontia, talon cusps

Tumors Meningioma, neuroblastoma, medullablastoma, oligodendroglioma, seminoma

Skin Keloids

Sleep apnea Obstructive sleep apnea

(a) (b)

Figure1: Hands and feet in RTS. Broad thumbs, broad terminal phalanges were seen.

2. Case Report

A 7-year-old girl accompanied by parents reported to thefaculty of Dentistry, Department of Pedodontics, MedipolUniversity, Turkey, with a complaint of caries and bleeding of

gingiva. She is the second child of a remote consanguineouscouple. Her old sister had no signs of dental anomalies. Thepatient was born at term, weighing 2 kg 850 g.

The following clinical extraoral findings were observed:short stature with broad thumbs, mental retardation, downslant of the palpebral fissures, strabismus and simple ear(Figures 1(a), 1(b)). The nose has a beaked appearance,broad fleshy bridge, deviated septum, and short low col-umella (Figure 2) and she had cardiac abnormalities.

Intra-oral findings were high-arched and cleft palate,a small mouth and malocclusion (Figures 3(a) and 3(b)).Talon cusps were present on maxillary central and lateralincisors (Figure 4). The patient also had carious lesions

(Figures3(a), 3(b), 4, 5(a), 5(b)). Upper and lower molarteeth had deep dentinal carious lesions (no.16, no. 26, no. 36,no. 46, no. 75, no. 85). Heavy calculus and plaque depositioncould be noted on all teeth. The marginal gingiva was severelyswollen and probing resulted in profuse gingival bleeding.

After the complete clinical examination and investiga-tion, the following dental treatment plan was derived.

(1) Oral prophylaxis and topical fluoride application.

(2) Cavity preparation and composite resin restoration(no. 16, no. 26, no. 36, no. 46, no. 75, no. 85).

(3) Extraction of no. 53, no. 64.

(4) Recall follow-up sessions for every 3 months.

Figure 2: Facial characteristics include slanting palpebral fissuresand beaked nose with nasal septum.

Due to difficulties in the patients behavior and herinability to cooperate during dental treatment because of hermental disability, the treatment was performed under generalanesthesia.

Detailed oral hygiene instructions were given to hermother who provided routine care for the patient and thepatient recalled follow-up sessions every 3 months. However,because of her incoordination about brushing teeth; evidence

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(a) (b)

Figure3: (a) Intraoral findings were a small mouth and malocclusion. (b) In intra-oral findings, high-arched and cleft palate was seen. Andupper molar teeth had deep dentinal carious lesions.

Figure4: Talon cusps were present on maxillary central and lateralincisors.

of unimproved dental hygiene was observed and instead ofthis no new caries were found. Because of plaque depositionon all teeth, periodontal treatment consisted of scaling,and oral prophylaxis and topical fluoride application wereperformed under sedation after 6 months later.

3. Discussion

The 7-year-old girl described in this paper was diagnosedwith RTS associated with a microdeletion at 16p 13.3chromosome. She had cardiac abnormalities, which are fre-

quently found in 2438% cases [7,16,19].RTS is a rare multiple congenital anomaly syndrome

[20]. Intraoral findings of the patient with RTS were reducedoral opening, a narrow palate, malocclusion, gingivitis, andcaries. It was reported that patients with RTS have anincreased rate of caries (15% to 36%) because of their poororal hygiene, which was similar to our patient [7, 12, 21].Malposition and crowded teeth are present in 62% of patients[7, 22]. In this patient, upper and lower molar teeth haddeep dentinal carious lesions (no. 16, no. 26, no. 36, no.46, no. 75, no. 85). Heavy calculus and plaque depositioncould be noted on all teeth. The marginal gingiva was severelyswollen and probing resulted in profuse gingival bleeding,

(a)

(b)

Figure5: Lower molar teeth had deep dentinal carious lesions.

and malposition was one of, important problems in ourpatient.

In most patients with this syndrome, it is necessary tocarry out the dental treatment under sedation or generalanesthesia. It is important to know that these patientsmight have upper respiratory obstruction during sleeping orsedation because of the anatomical characteristics of theirmaxillofacial region [1618]. The treatment of the patientwas performed under general anesthesia by anesthesiologist.

Freitas et al. [19] reported the periodontal and immuno-logical status of a 14-year-old female patient with RTS andpossible association between syndrome and periodontal dis-ease was reported in the paper. In this paper, heavy calculus

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and plaque deposition could be noted on all teeth. Themarginal gingiva was severely swollen and probing resultedin profuse gingival bleeding.

Prospects for future good oral and dental status in thispatient are questionable because of her extreme lack ofcooperation. For this reason, she needs a longer followup.

References

[1] J. Michail, J. Matsoukas, and S. Theodorou, Arched, clubbedthumb in strong abduction-extension & other concomitantsymptoms., Revue de Chirurg ie Orthopedique et Reparatricede lAppareil Moteur, vol. 43, no. 2, pp. 142146, 1957.

[2] J. H. Rubenstein and H. Taybi, Broad thumbs and toes andfacial abnormalities. A possible mental retardation syndrome,

American Journal of Diseases of Children, vol. 105, pp. 588608,1963.

[3] J. H. Roelfsema and D. J. M. Peters, Rubinstein-Taybi syn-drome: clinical and molecular overview, Expert Reviews in

Molecular Medicine, vol. 9, no. 23, pp. 116, 2007.

[4] S. H. Kim, B. C. Lim, J. H. Chae, K. J. Kim, and Y. S. Hwang,A case of Rubinstein-Taybi syndrome with a CREB-bindingprotein gene mutation,Korean Journal of Pediatrics, vol. 53,no. 6, pp. 718721, 2010.

[5] A. Bloch-Zupan, J. Stachtou, D. Emmanouil, B. Arveiler, D.Griffiths, andD. Lacombe, Oro-dental features as useful diag-nostic tool in Rubinstein-Taybi syndrome, American Journalof Medical Genetics A, vol. 143, no. 6, pp. 570573, 2007.

[6] I. Coupry, C. Roudaut, M. Stef et al., Molecular analysis ofthe CBP gene in 60 patients with Rubinstein-Taybi syndrome,

Journal of Medical Genetics, vol. 39, no. 6, pp. 415421, 2002.[7] M. C. Morales-Chavez, Dental management of a patient with

Rubinstein-Taybi syndrome,Special Care in Dentistry, vol. 30,no. 3, pp. 124126, 2010.

[8] D. G. Gardner and S. S. Girgis, Talon cusps: a dental anomalyin the Rubinstein-Taybi syndrome, Oral Surgery Oral Medi-cine and Oral Pathology, vol. 47, no. 6, pp. 519521, 1979.

[9] R. L. Cirillo, Pediatric case of the day. Rubenstein-Taybisyndrome,Radiographics, vol. 17, no. 6, pp. 16041605,1997.

[10] J. E. Ming, E. R. Stiehm, and J. M. Graham Jr., Immunode-fiency as a component of recognizable syndromes,American

Journal of Medical Genetics, vol. 66, no. 4, pp. 378398, 1996.[11] R. C. Hennekam, Bibliography on Rubinstein-Taybi syn-

drome., American Journal of Medical Genetics. Supplement,vol. 6, pp. 7783, 1990.

[12] R. W. Miller and J. H. Rubinstein, Tumors in Rubinstein-Taybi syndrome, American Journal of Medical Genetics, vol.56, no. 1, pp. 112115, 1995.

[13] C. C. Chuang and H. C. Lin, Pilomatrixoma of the head andneck,Journal of the Chinese Medical Association, vol. 67, no.12, pp. 633636, 2004.

[14] M. J. T. Verstegen, P. Van Den Munckhof, D. Troost, and G. J.Bouma, Multiple meningiomas in a patient with Rubinstein-Taybi syndrome,Journal of Neurosurgery, vol. 102, no. 1, pp.167168, 2005.

[15] C. A. Stevens and M. G. Bhakta, Cardiac abnormalities inthe Rubinstein-Taybi syndrome,American Journal of MedicalGenetics, vol. 59, no. 3, pp. 346348, 1995.

[16] S. Wiley, S. Swayne, J. H. Rubinstein, N. E. Lanphear, and C.A. Stevens, Rubinstein-Taybi syndrome medical guidelines,

American Journal of Medical Genetics, vol. 119, no. 2, pp. 101110, 2003.

[17] L. A. H. Critchley, T. Gin, and J. C. Stuart, Anaesthesia in aninfant with Rubinstein-Taybi syndrome,Anaesthesia, vol. 50,no. 1, pp. 3738, 1995.

[18] J. E. Allanson, Rubinstein-Taybi syndrome: the changingface, American Journal of Medical Genetics, no. 6, pp. 3841,1990.

[19] N. M. Freitas, A. V. Imbronito, C. S. K. La Scala, R. F. M.

Lotufo, and F. E. Pustiglioni, Periodontal disease in a Ru-binstein-Taybi syndrome patient: case report, International

Journal of Paediatric Dentistry, vol. 16, no. 4, pp. 292296,2006.

[20] A. Stalin, B. Varma, and Jayanthi, Rubinstein Taybi syn-drome,Journal of Indian Society of Pedodontics and PreventiveDentistry, vol. 24, supplement 1, pp. S27S30, 2006.

[21] S. H. Hsiung, Rubinstein-Taybi syndrome (broad thumb-hallux syndrome), Dermatology Online Journal, vol. 10, no.3, article 2, 2004.

[22] E. Davidovich, D. Eimerl, and B. Peretz, Dental treatment ofa child with Rubinstein-Taybi syndrome,Pediatric Dentistry,vol. 27, no. 5, pp. 385388, 2005.

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